I. Maire

发表

Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.

R. Desnick, R. Froissart, N. Guffon, 2003, Molecular genetics and metabolism.

LIVER CIRCADIAN CLOCK, A PHARMACOLOGIC TARGET OF CYCLIN-DEPENDENT KINASE INHIBITOR SELICICLIB

S. Iacobelli, F. Lévi, E. Filipski, 2009, Chronobiology international.

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a

I. Gérin, E. Schaftingen, M. Veiga-da-Cunha, 1999, European Journal of Human Genetics.

Reference materials in clinical enzymology: preparation, requirements and practical interests.

J. Lessinger, I. Maire, F. Gella, 1994, Annales de biologie clinique.

Usefulness of Reference Materials in Calibration of Enzyme Activities

F. Schiele, J. Lessinger, I. Maire, 1995, European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies.

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

H. Mandel, A. Reuser, D. Bali, 2008, Molecular genetics and metabolism.

Early Neurodegeneration Progresses Independently of Microglial Activation by Heparan Sulfate in the Brain of Mucopolysaccharidosis IIIB Mice

D. Cheillan, M. Vanier, I. Maire, 2008, PloS one.

Abnormal expression of truncated CRMP-1 protein in the brain cortex of MPSIIIB mice.

J. Honnorat, D. Cheillan, M. Belin, 2008, Molecular genetics and metabolism.

Improved Behavior and Neuropathology in the Mouse Model of Sanfilippo Type IIIB Disease after Adeno-Associated Virus-Mediated Gene Transfer in the Striatum

A. Cressant, R. Froissart, M. Vanier, 2004, The Journal of Neuroscience.

COS cell expression studies of P86L, P86R, P480L and P480Q Hunter's disease-causing mutations.

D. Bozon, R. Froissart, G. Millat, 1998, Biochimica et biophysica acta.

IDS gene‐pseudogene exchange responsible for an intragenic deletion in a hunter patient

D. Bozon, R. Froissart, I. Maire, 1996, Human mutation.

Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.

P. Meikle, J. Hopwood, P. Whitfield, 2004, Molecular genetics and metabolism.

Type 3 Gaucher Disease: Clinical and Biological Heterogeneity

I. Maire, P. Guibaud, 1988 .

Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue.

D. Bozon, R. Froissart, G. Millat, 1997, The Biochemical journal.

IDS transfer from overexpressing cells to IDS-deficient cells.

D. Bozon, R. Froissart, G. Millat, 1997, Experimental cell research.

Processing of iduronate 2-sulphatase in human fibroblasts.

D. Bozon, R. Froissart, G. Millat, 1995, The Biochemical journal.

Detection of carriers for duchenne muscular dystrophy. Quality control of creatine kinase assay

C. Junien, J. Lalouel, H. Plauchu, 1982, Human Genetics.

SIMPLE mutation analysis in dominant demyelinating Charcot‐Marie‐Tooth disease: three novel mutations

C. Stoll, P. Latour, T. Stojkovic, 2006, Journal of the peripheral nervous system : JPNS.

Perinatal‐lethal Gaucher disease

P. Josset, J. Roume, A. Gelot, 2003, American journal of medical genetics. Part A.

[Late diagnosis of a McArdle disease's case (type V glycogenosis)].

J. Brun, M. Rolland, J. Mercier, 2007, Annales de biologie clinique.

Molecular pathology of NEU1 gene in sialidosis

A. Pshezhetsky, R. Froissart, M. Zabot, 2003, Human mutation.

Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?

I. Maire, 2001, Journal of Inherited Metabolic Disease.

Follow-up of nine patients with Hurler syndrome after bone marrow transplantation.

N. Guffon, I. Maire, G. Souillet, 1998, The Journal of pediatrics.

Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources

Y. Bertrand, Y. Bertrand, J. Bérard, 2003, Bone Marrow Transplantation.

[Biochemical and molecular diagnosis of Gaucher disease in Tunisia].

S. Laradi, R. Froissart, A. Miled, 2007, Annales de biologie clinique.

Mutation analysis in 11 French patients with Fabry disease

R. Froissart, N. Guffon, I. Maire, 1998, Human mutation.

The 2.1-, 5.4- and 5.7-kb transcripts of the IDS gene are generated by different polyadenylation signals.

D. Bozon, R. Froissart, I. Maire, 1999, Biochimica et biophysica acta.

Interference of Amlkacin In ThIn-Layer Chromatographic Screening of Urine for

I. Maire, M. Piraud, 1990 .

Creatine kinase: reassessment of optimal concentrations for adenosine-5'-diphosphate and magnesium.

J. Steghens, I. Maire, M. Mathieu, 1986, Clinical chemistry.

[Severe cardiomyopathy revealing amylopectinosis. Two cases in adolescents from the same family].

B. Eymard, D. Duboc, M. Fardeau, 1994, Presse medicale.

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

I. Gérin, E. Schaftingen, M. Veiga-da-Cunha, 1998, American journal of human genetics.

Type 2 Gaucher disease: 15 new cases and review of the literature

C. Mignot, D. Doummar, I. Maire, 2006, Brain and Development.

Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis).

R. Froissart, I. Maire, M. Piraud, 1996, Clinica chimica acta; international journal of clinical chemistry.

Evidence for the presence of a very high concentration of arylsulfatase A in the pig thyroid: identification of arylsulfatase A subunits as the two major glycoproteins in purified thyroid lysosomes.

I. Maire, B. Rousset, S. Selmi, 1989, Archives of biochemistry and biophysics.

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases the nomenclature used for neutral glycolipids follows the IUPAC-IUB recommendation (1). DOI 10.1194/jlr.M100423-JLR200

R. Desnick, D. Schindler, A. Chabás, 2002, Journal of Lipid Research.

Erythrocyte ghost (Na+ + K+) ATPase activity in mice with hereditary muscular dystrophy (strain C57 BL 6 J/dy)

M. Rolland, I. Maire, G. Souweine, 1978, Journal of Neurology.

Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes.

S. Raoul, H. Petry, M. Tardieu, 2011, Molecular therapy : the journal of the American Society of Gene Therapy.

Ketogenesis in hypoglycemic neonates. Carnitine and dicarboxylic acids in neonatal hypoglycemia.

P. Divry, L. Sann, I. Maire, 1987, Biology of the neonate.

Mucopolysaccharidose de type I : interet d'un diagnostic et d'une enzymotherapie substitutive precoces. Apropos d'un cas Hurler syndrome: Early diagnosis and successful enzyme replacement therapy: A new therapeutic approach. Case report

R. Froissart, I. Maire, N. Guffon-Fouilhoux, 2008 .

Gene therapy of the brain in the dog model of Hurler's syndrome

S. Raoul, B. Schwartz, N. Ferry, 2006, Annals of neurology.

Molecular Pathology of NEU 1 Gene in Sialidosis

A. Pshezhetsky, R. Froissart, M. Zabot, 2003 .

Types I and III Gaucher Disease in Poland: Incidence of the Most Common Mutations and Phenotypic Manifestations

A. Tylki-Szymańska, G. Millat, I. Maire, 1996, European journal of human genetics : EJHG.

Human placenta: A convenient source of homologous material, for diagnosis and therapy of inborn errors of metabolism

I. Maire, M. Mathieu, 1984, Journal of Inherited Metabolic Disease.

Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non‐specific ALP gene in prenatal diagnosis of severe hypophosphatasia

J. Oury, F. Muller, I. Maire, 1999 .

Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia.

J. Oury, F. Muller, I. Maire, 1999, Prenatal diagnosis.

Long-term follow-up of metachronous marrow-kidney transplantation in severe type II sialidosis: what does success mean?

Y. Bertrand, M. Schiff, P. Cochat, 2005, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Acid and neutral lipase activity in lymphocytes of patients with increased serum cholesterol and triglyceride level.

A. Dembińska-kieć, F. Chevalier, I. Maire, 1993, Journal of Physiology and Pharmacology.

Steroid sulphatase deficiency. Steroid sulphatase and arylsulphatase C determination in normal and affected fibroblasts.

I. Maire, M. Piraud, M. T. Zabot, 1984, Journal of inherited metabolic disease.

Glycogen storage disease and inflammatory bowel disease.

R. Gonthier, J. Dumollard, H. Rousset, 1989, The Journal of pediatrics.

Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience.

N. Moatti, I. Maire, C. Baussan, 1991, Clinical biochemistry.

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients

D. Bozon, R. Froissart, G. Millat, 1998, Clinical genetics.

Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero

R. Bouvier, D. Cheillan, R. Froissart, 2005, Journal of Medical Genetics.

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

T. Hudson, A. Verner, A. Pshezhetsky, 2006, American journal of human genetics.

Enzymatic characterization of four new mutations in the glucose‐6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a

G. Mithieux, F. Rajas, I. Maire, 1999, Annals of human genetics.

Mutation analysis in 24 French patients with glycogen storage disease type 1a.

D. Bozon, G. Mithieux, I. Maire, 1996, Journal of medical genetics.

Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.

N. Risch, B. Gelb, R. Desnick, 2000, American journal of human genetics.

The place of fetal liver transplantation in the treatment of inborn errors of metabolism

E. Goillot, M. Rolland, C. Pouteil‐Noble, 1991, Journal of Inherited Metabolic Disease.

MPS II in females: molecular basis of two different cases

D. Bozon, I. Tigaud, R. Froissart, 2000, Journal of medical genetics.

Germline and somatic mosaicism in a female carrier of Hunter disease.

D. Bozon, R. Froissart, T. Levade, 1997, Journal of medical genetics.

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.

A. Brown, K. Sandhoff, K. Suzuki, 1990, American journal of human genetics.

Hunter syndrome: Gene deletions and rearrangements

D. Bozon, J. Blond, J. Hopwood, 1993, Human mutation.

A 5‐megabase familial deletion removes the IDS and FMR‐1 genes in a male Hunter patient

D. Bozon, B. Delobel, I. Maire, 1996, Human Mutation.

Variant of GM2‐gangliosidosis with hexosaminidase A having a severely changed substrate specificity.

K. Sandhoff, K. Suzuki, I. Maire, 1983, The EMBO journal.

Fabry disease: Characterization of α‐galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

R. Desnick, R. M. Burnett, S. D. Benson, 2003, Human mutation.

Mucopolysaccharidosis type II: an update on mutation spectrum

R. Froissart, I. Maire, I. M. da Silva, 2007, Acta paediatrica.

Low β-glucuronidase enzyme activity and mutations in the human β-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote

R. Vervoort, W. Lissens, I. Liebaers, 1998, Human Genetics.

Mucopolysaccharidosis type II – genotype/phenotype aspects

D. Bozon, R. Froissart, N. Guffon, 2002, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Diagnosis of mucopolysaccharidoses in a clinically selected population by urinary glycosaminoglycan analysis: a study of 2,000 urine samples.

I. Maire, M. Piraud, M. Mathieu, 1993, Clinica chimica acta; international journal of clinical chemistry.

Fetal ascites and oligohydramnios: Prenatal diagnosis of a sialic acid storage disease (index case)

S. Odent, P. Poulain, I. Maire, 1995, Prenatal diagnosis.

Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).

B. Burwinkel, I. Maire, H. Bakker, 1996, Human molecular genetics.

Mutations in the testis/liver isoform of the phosphorylase kinase γ subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans

B. Burwinkel, O. Søvik, I. Maire, 1996, Nature Genetics.

Enzymatic findings in a case of type II mucolipidosis

I. Maire, M. Mathieu, 1982, Journal of Inherited Metabolic Disease.

Differences in methylation patterns in the methylation boundary region of IDS gene in hunter syndrome patients: implications for CpG hot spot mutations

W. Sly, R. Froissart, P. Natale, 2006, European Journal of Human Genetics.

Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation

N. Guffon, I. Maire, C. Dorche, 1995, Journal of Inherited Metabolic Disease.

Prenatal Diagnosis of Cystic Fibrosis: Experience of Two Complementary Methods

D. Bozon, I. Maire, R. Gilly, 1989, Journal of Inherited Metabolic Disease.

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece

D. Zafeiriou, O. Danos, M. Tardieu, 2011, American journal of medical genetics. Part A.

Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8

T. Hudson, A. Verner, A. Pshezhetsky, 2004, Journal of Medical Genetics.

Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene

E. Obberghen, R. Froissart, I. Maire, 2005, Journal of Inherited Metabolic Disease.

A deletion polymorphism in intron 4 of the IDUA gene.

D. Bozon, I. Maire, O. Bouton, 1995, Molecular and cellular probes.

Combined deficiency of β-galactosidase and neuraminidase: Three affected siblings in a French family

I. Maire, A. Nivelon‐Chevallier, 1981, Journal of Inherited Metabolic Disease.

[Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families].

S. Laradi, R. Froissart, S. Khedhiri, 2007, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

[Clinico-biologic and molecular study of mucopolysaccharidosis in central and southern Tunisia].

S. Laradi, R. Froissart, A. Miled, 2001, Annales de biologie clinique.

Molecular basis of Mucopolysaccharidosis type II in Portugal: identification of four novel mutations

D. Bozon, R. Froissart, I. Maire, 2001, Clinical genetics.

Pitfalls of screening for mucopolysaccharidoses by the dimethylmethylene blue test.

I. Maire, M. Piraud, M. Mathieu, 1993, Clinical chemistry.

Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy

M. Rolland, D. Cheillan, R. Froissart, 2006, Journal of Inherited Metabolic Disease.

Glycogen storage disease type IV presenting as hydrops fetalis

M. L. Cardoso, E. Martins, I. Maire, 1999, Journal of Inherited Metabolic Disease.

β-Glucuronidase deficiency: Enzyme studies in an affected family and prenatal diagnosis

I. Maire, P. Guibaud, M. Mathieu, 1979, Journal of Inherited Metabolic Disease.

Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease

D. Annane, H. Chabriat, D. Orlikowski, 2008, Neurology.

Biomarkers for Pompe Disease

I. Maire, 2008 .

The role of current biomarkers in the management of lysosomal storage disorders

R. Froissart, N. Guffon, I. Maire, 2008 .

ATTEMPT AT ENZYME REPLACEMENT BY FETAL LIVER TRANSPLANTATION IN FABRY'S DISEASE

I. Maire, J. Touraine, J. Traeger, 1979, The Lancet.

Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.

R. Vervoort, W. Lissens, I. Liebaers, 1998, Human genetics.

McArdle's disease in childhood: report of a new case.

F. Rivier, B. Echenne, A. Roubertie, 1998, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Possible prenatal diagnosis of type III glycogenosis

I. Maire, M. Mathieu, 1986, Journal of Inherited Metabolic Disease.

An abnormal exercise test response revealing a respiratory chain complex III deficiency

C. Godinot, I. Maire, M. Bouzidi, 1995, Acta neurologica Scandinavica.

[Value of skin fibroblasts in culture for the diagnosis of mitochondrial cell dysfunction. Apropos of 5 cases with cytochrome c oxidase deficiency].

B. Echenne, M. Rimoldi, I. Maire, 1993, Pediatrie.

Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency

C. Vial, I. Maire, G. Rambaud, 2004, Acta Neuropathologica.

Urinary alanine aminopeptidase assay improved as result of multivariate response-surface analysis.

J. Gabastou, I. Maire, D. Feldmann, 1988, Clinical Chemistry.

Prevention of neonatal hypoglycaemia by oral lipid supplementation in low birth weight infants

L. Sann, M. Bethenod, I. Maire, 1988, European Journal of Pediatrics.